rs587777040

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs587777040(C;C)

Make rs587777040(C;T)

Reference

GRCh38 38.1/142

Chromosome

2

Position

85389806

Gene

ELMOD3

is a	snp
is	mentioned by
dbSNP	rs587777040
dbSNP (classic)	rs587777040
ClinGen	rs587777040
ebi	rs587777040
HLI	rs587777040
Exac	rs587777040
Gnomad	rs587777040
Varsome	rs587777040
LitVar	rs587777040
Map	rs587777040
PheGenI	rs587777040
Biobank	rs587777040
1000 genomes	rs587777040
hgdp	rs587777040
ensembl	rs587777040
geneview	rs587777040
scholar	rs587777040
google	rs587777040
pharmgkb	rs587777040
gwascentral	rs587777040
openSNP	rs587777040
23andMe	rs587777040
SNPshot	rs587777040
SNPdbe	rs587777040
MSV3d	rs587777040
GWAS Ctlg	rs587777040

Max Magnitude

0

ClinVar
Risk	rs587777040(C;C)
Alt	rs587777040(C;C)
Reference	Rs587777040(T;T)
Significance	Pathogenic
Disease	Deafness
Variation	info
Gene	ELMOD3
CLNDBN	Deafness, autosomal recessive 88
Reversed	0
HGVS	NC_000002.11:g.85616929T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000055658.4,